Jump to

Abstract

Four male members of a family are known to have congenital mitral and aortic insufficiency, a fifth male has congenital mitral insufficiency only, and a sixth male had congenital heart disease by history. The involved males comprised all males in three generations of this family. Chromosomal and dermatoglyphic studies of the two living affected males are normal.

The involvement of males in this family is best explained on the basis of X-linked recessive inheritance. To our knowledge, this is the first report of possible X-linked inheritance of isolated congenital heart disease.